A new kind of congenital disorder caused by a group of mutations in a gene previously linked only to a rare progressive brain disease has been discovered by an international team co-led by Saudi investigators.
May 20, 2019
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A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in ...
Nov 4, 2011
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A new study involving Canada's Centre for Addiction and Mental Health (CAMH) has found a gene connected with a type of intellectual disability called Joubert syndrome.
May 12, 2011
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The most common heart valve abnormality has now been linked to an increased risk of aneurysms.
May 14, 2014
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A genetic disorder in PRDM6 causes patent ductus arteriosus (PDA), a congenital heart defect common in premature infants—suggesting a potential target for the treatment of congenital heart diseases.
Feb 14, 2022
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A new treatment for patients with a form of congenital retinal blindness has shown success in improving vision, according to results published today in Nature Medicine led by researchers at the Scheie Eye Institute in the ...
Dec 17, 2018
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An international team of researchers has identified two new genes connected with hereditary renal diseases.
Sep 6, 2011
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In a new study, Yale researchers identified a novel genetic defect that prevents brain tumor cells from repairing damaged DNA. They found that the defect is highly sensitive to an existing FDA-approved drug used to treat ...
Feb 1, 2017
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Researchers from the University of Exeter Medical School have for the first time identified the mechanism that protects us from developing uncontrollable fear.
Oct 5, 2012
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Behavioral abnormalities are traditionally thought to originate in the brain. But a new study by researchers at Albert Einstein College of Medicine of Yeshiva University has found that inner-ear dysfunction can directly cause ...
Sep 5, 2013
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